Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome

Abstract Objective Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding...

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Bibliographic Details

Published in:	BMC Medical Genomics
Main Authors:	Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang
Format:	Article
Language:	English
Published:	BMC 2024-04-01
Subjects:	SOTOS syndrome NSD1 Overgrowth Whole exome sequencing Structural analyses
Online Access:	https://doi.org/10.1186/s12920-024-01889-5